Associated Papers
SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights.
Muelas N et al.
Annals of Clinical and Translational Neurology, 2025
41054283 (PubMed )
Supplement: ACN3-13-285-s003.pdf
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Iruzubieta P et al.
Brain : a Journal of Neurology, 2024
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M et al.
Nature Communications, 2024
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